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Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?

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dc.contributor.authorRamos-Molina, Bruno
dc.contributor.authorMolina-Vega, María
dc.contributor.authorFernández-García, José Carlos
dc.contributor.authorCreemers, John W
dc.date.accessioned2024-02-08T14:41:28Z
dc.date.available2024-02-08T14:41:28Z
dc.date.issued2018-06-07
dc.description.abstractPrader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.
dc.format.number6es_ES
dc.format.volume9es_ES
dc.identifier.doi10.3390/genes9060288
dc.identifier.issn2073-4425
dc.identifier.journalGeneses_ES
dc.identifier.otherhttp://hdl.handle.net/10668/12563
dc.identifier.pubmedID29880780es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/17604
dc.language.isoeng
dc.rights.accessRightsopen accesses_ES
dc.rights.licenseAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectPCSK1 deficiency
dc.subjectPrader–Willi syndrome
dc.subjectHyperphagia
dc.subjectHypothalamus
dc.subjectObesity
dc.titleHyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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